The Exponential Constriction Model of the Ellipsoid Zone in Taiwanese Individuals With RPGR-Related X-Linked Retinitis Pigmentosa.

ABSTRACT:

Purpose

This study documents the natural disease progression and genotype-phenotype correlation in RPGR-related retinitis pigmentosa (RP) in the Taiwanese population.

Methods

A retrospective analysis was conducted on individuals with molecularly confirmed RPGR-related disease-causing variant(s). Demographics, best-corrected visual acuity (BCVA), spherical equivalent (SE), fundus autofluorescence, and optical coherence tomography were assessed.

Results

Fifty-two individuals from 31 families were diagnosed with RPGR-related disease-causing variant(s). Mean follow-up time was 4.2 years. Among 21 genetic variants, 67% involved the open reading frame 15 region (ORF15) variant, and 33% were Exon 1-14 variants. Male patients (69%) had a mean BCVA of 0.9 logMAR and SE of -3.8

SUBMITTER: Huang YH 

PROVIDER: S-EPMC12020949 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature